Familial Fahr Disease in a Turkish Family

Kotan D., Aygul R.

SOUTHERN MEDICAL JOURNAL, cilt.102, sa.1, ss.85-86, 2009 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 102 Sayı: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1097/smj.0b013e3181833f02
  • Dergi Adı: SOUTHERN MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.85-86
  • Anahtar Kelimeler: basal ganglia, Fahr syndrome, intracranial calcification, BILATERAL STRIOPALLIDODENTATE CALCINOSIS, BASAL GANGLIA CALCIFICATION, TOMOGRAPHY
  • Atatürk Üniversitesi Adresli: Evet

Özet

Fahr syndrome refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcification. We present a 42-year-old woman with Fahr disease, but lacking extrapyramidal symptoms or a metabolic disorder. Her neurological examination was normal. Computed tomographic scans demonstrated symmetrical calcification over the basal ganglia, thalamus and cerebellum. NO underlying cause for the bilateral calcification was found. When screening other Family members, we detected Fahr syndrome in her two daughters and three brothers. revealing that the disease was an autosomal dominant trait. Fahr disease may be clinically asymptomatic, but have pronounced positive brain imaging findings. Computed tomographic scanning remains the most effective screening tool for adult relatives.